Understanding the Roles of ESRP1 and Sox2 in Orofacial Clefting

Joseph working in a lab.




Research Associate Professor of Surgery; Research Director, Division of Plastic Surgery

Project Summary

Cleft lip and/or palate (CL/P) is the most common craniofacial birth defect, however the molecular mechanisms underlying this common condition remains largely unknown. Dr. Nah’s team has been studying craniofacial development in mice, which present an excellent model of lip and palate formation. The epithelial adhesion and fusion process between the facial prominences are critical steps in the formation of the lip and palate. This fusion of the lip occurs at about 6 weeks in humans and around embryonic day 11.5 in mice. Many of the molecular candidates involved in orchestrating this fusion will be at their height of expression during this point in pregnancy. Therefore, I euthanized and dissected Esrp1 Sox2 double transgenic mice in order to extract the embryos at this specific timepoint. From there, I isolated the facial ectoderm and mesenchyme from these embryos to purify and sequence the tissue’s genetic material. The goal of this project is to delineate the molecular pathways involved in the fusion process during upper lip formation, and this knowledge will hopefully contribute to future therapeutic treatments of this very common craniofacial defect.  

I have been involved in my lab’s research for almost a year now, but it was not until this summer that I was able to take an independent approach to my project. With funding from the College Alumni Society, I was able to purchase my own equipment and reagents. This allowed me to then develop my own protocols for dissections and subsequent tissue purifications. I was also able to breed and maintain mice for my own experiments.

My research experience has enriched my understanding of the complex molecular interactions that underlie embryonic development. As a biochemistry major, this is invaluable to me, since I have been able to observe firsthand many of the concepts that were covered in my biology- and chemistry-related coursework. Furthermore, my dissections on pregnant mice have allowed me to become proficient with microsurgery instruments. I am comfortable creating meticulous and precise maneuvers with these instruments, which is sure to be useful for me as a student pursuing a career in medicine.